PMC:5420355 / 34819-35690 JSONTXT

{"target":"https://pubannotation.org/docs/sourcedb/PMC/sourceid/5420355","sourcedb":"PMC","sourceid":"5420355","source_url":"https://www.ncbi.nlm.nih.gov/pmc/5420355","text":"Given the high success rate, strong consideration should be given to using exome sequencing as a first-line diagnostic test in OGID. Height and head circumference can be easily measured and intellectual disability is readily diagnosable. Therefore, implementation of exome sequencing in OGID should be straightforward. Gene testing would provide important diagnostic and recurrence risk information to many families. Furthermore, it would increase genotype-phenotype data, which are urgently required to improve prognostic information. Of equal importance, exome sequencing in OGID would lead to the identification of new genes and new mutations in known genes. In turn, this will stimulate and facilitate scientific research, enhancing knowledge of basic biological processes controlling growth and the diverse pathologies in which human growth control is dysfunctional.","tracks":[]}